{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499279740",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 2207,
          "referenceAllele": "L",
          "start": 2206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020751",
      "geneNCBI_id": 23001,
      "geneSymbol": "WDFY3",
      "hgvs": [
        "NP_055806.2:p.Leu2207Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA357552499",
          "hgvs": "NM_014991.6:c.6619C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174188"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1016444[alleleid]",
        "alleleId": 1016444,
        "preferredName": "NM_014991.6(WDFY3):c.6619C>G (p.Leu2207Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1027921",
        "RCV": [
          "RCV001328826"
        ],
        "variationId": 1027921
      }
    ]
  },
  "type": "amino-acid"
}